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exons
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- Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are ...
- ... or absence of a particular segment known as exon 3, which is located in the extracellular region ... receptor. The version of the receptor that includes exon 3 is known as the full-length isoform ( ...
- ... version contains a segment known as the ORF15 exon. This version of the RPGR protein is active ( ... X-linked retinitis pigmentosa occur in the ORF15 exon of the RPGR protein. These mutations usually result ...
- ... provide instructions for making proteins. These pieces, called exons, are thought to make up 1 percent of a person's genome. Together, all the exons in a genome are known as the exome, ...
- ... occur in areas of the gene known as exon 8 and exon 9. Most of these variants result in changes ... of Denys-Drash syndrome.Rarely, a variant in exon 8 or exon 9 of the WT1 gene ...
- ... in areas of the ECM1 gene known as exon 6 and exon 7. One mutation that deletes a single DNA building block (nucleotide) from exon 6 of the ECM1 gene (written 507delT) has ...
- ... particular segments of the PPM1D gene known as exon 5 or exon 6. These variants disrupt the gene's instructions, ... Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am ...
- ... occur in regions of the gene known as exon 30 or exon 31. They result in changes to single protein ... Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Am J Med ...
- ... another part of the JAK2 gene known as exon 12.The V617F JAK2 gene mutation results in ... affected individuals have a somatic mutation in the exon 12 region of the JAK2 gene.JAK2 gene ...
- ... in regions of the FLNB gene known as exons 2 through 5 seem to have the most ... are usually caused by apparently milder mutations in exons 2 through 5 or by mutations in exons ...
